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HLBS PHGKB

Specific PHGKB|HLBS|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Apr 25, 2024
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An approach to identify gene-environment interactions and reveal new biological insight in complex traits
(Posted Apr 25, 2024 9AM)

From the abstract: " Here, we present a powerful new approach to screen for interactions across the genome, an approach that shares substantial similarity to the Mendelian randomization framework. We identify and confirm 5 loci (6 independent signals) interacted with either cigarette smoking or alcohol consumption for serum lipids, and empirically demonstrate that interaction and mediation are the major contributors to genetic effect size heterogeneity across populations. "

Exagamglogene Autotemcel for Severe Sickle Cell Disease
(Posted Apr 25, 2024 8AM)

From the abstract: "We conducted a phase 3, single-group, open-label study of exa-cel in patients 12 to 35 years of age with sickle cell disease who had had at least two severe vaso-occlusive crises in each of the 2 years before screening. CD34+ HSPCs were edited with the use of CRISPR-Cas9...A total of 44 patients received exa-cel, and the median follow-up was 19.3 months...Treatment with exa-cel eliminated vaso-occlusive crises in 97% of patients with sickle cell disease for a period of 12 months or more. "

Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review
(Posted Apr 19, 2024 10AM)

From the abstract: "A large proportion of patients with sickle cell disease (SCD) identify as Black or African American (AA). Social bias and stigma in healthcare outcomes for children with SCD are impossible to explore without considering the impact of racial/cultural identity, socioeconomic status (SES), and geography. It is important to understand the current influences of social movements, expanded health insurance coverage, and telehealth on these variables when considering healthcare outcomes for patients with SCD. "

Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial
(Posted Apr 19, 2024 10AM)

From the abstract: " Familial hypercholesterolemia (FH) is a heritable disorder affecting 1.3 million individuals in the USA. Eighty percent of people with FH are undiagnosed, particularly minoritized populations including Black or African American people, Asian or Asian American people, and women across racial groups. Family cascade screening is an evidence-based practice that can increase diagnosis and improve health outcomes but is rarely implemented in routine practice, representing an important care gap. In pilot work, we leveraged best practices from behavioral economics and implementation science—including mixed-methods contextual inquiry with clinicians, patients, and health system constituents—to co-design two patient-facing implementation strategies to address this care gap..."


news Latest News and Publications
Enhanced identification of familial hypercholesterolemia using central laboratory algorithms. External Web Site Icon
Shirin Ibrahim et al. Atherosclerosis 2024 393117548
Modification of coronary artery disease clinical risk factors by coronary artery disease polygenic risk score. External Web Site Icon
Buu Truong et al. Med 2024
Navigating equity in global access to genome therapy expanding access to potentially transformative therapies and benefiting those in need requires global policy changes. External Web Site Icon
Tsung-Ling Lee et al. Front Genet 2024 151381172
Translational Research and Health Equity: Gene Therapies for Sickle Cell Disease as a Case Study. External Web Site Icon
Mary A Majumder et al. Ethics Hum Res 2024 46(3) 34-39
Identifying dementia from cognitive footprints in hospital records among Chinese older adults: a machine-learning study. External Web Site Icon
Jiayi Zhou et al. Lancet Reg Health West Pac 2024 46101060
Discovery of common molecular signatures and drug repurposing for COVID-19/Asthma comorbidity: ACE2 and multi-partite networks. External Web Site Icon
Xu Jiajun, et al. Cell cycle (Georgetown, Tex.) 2024 0 0. 1-30
The role of colchicine in the management of COVID-19: a Meta-analysis. External Web Site Icon
Elshiwy Kholoud, et al. BMC pulmonary medicine 2024 0 0. (1) 190
Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task. External Web Site Icon
Dana-Teodora Anton-Paduraru et al. Diagnostics (Basel) 2024 14(7)
Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial. External Web Site Icon
Christina Johnson et al. Implement Sci 2024 19(1) 30
Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review. External Web Site Icon
Sameerah Wahab et al. Cureus 2024 16(3) e56089

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About HLBS-PopOmics

HLBS-PopOmics is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to Heart and Vascular Diseases(H), Lung Diseases(L), Blood Diseases(B), and Sleep Disorders(S)...more

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Site Citation:
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1

Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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